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Topic Review
Progressive Familial Heart Block
Progressive familial heart block is a genetic condition that alters the normal beating of the heart.
  • 1.1K
  • 24 Dec 2020
Topic Review
Non-alcoholic Fatty Liver Disease
Non-alcoholic fatty liver disease (NAFLD) is a buildup of excessive fat in the liver that can lead to liver damage resembling the damage caused by alcohol abuse, but that occurs in people who do not drink heavily. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. The liver normally contains some fat; an individual is considered to have a fatty liver (hepatic steatosis) if the liver contains more than 5 to 10 percent fat.
  • 1.1K
  • 04 Jan 2021
Topic Review
Usher Syndrome
Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time.
  • 1.1K
  • 23 Dec 2020
Topic Review
Pilomatricoma
Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles.
  • 1.1K
  • 24 Dec 2020
Topic Review
Cohen Syndrome
Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features common in this condition include worsening nearsightedness (myopia), breakdown (degeneration) of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. These facial features typically include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open mouth.
  • 1.1K
  • 24 Dec 2020
Topic Review
Kallmann Syndrome
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.
  • 1.1K
  • 23 Dec 2020
Topic Review
ALX4 Gene
ALX homeobox 4. The ALX4 gene provides instructions for making a member of the homeobox protein family.
  • 1.1K
  • 24 Dec 2020
Topic Review
Russell-Silver Syndrome
Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth.
  • 1.1K
  • 24 Dec 2020
Topic Review
Fragile X Syndrome
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
  • 1.1K
  • 25 Dec 2020
Topic Review
MPL Gene
MPL proto-oncogene, thrombopoietin receptor
  • 1.1K
  • 23 Dec 2020
Topic Review
Atopic Dermatitis
Atopic dermatitis (also known as atopic eczema) is a disorder characterized by inflammation of the skin (dermatitis). The condition usually begins in early infancy, and it often disappears before adolescence. However, in some affected individuals the condition continues into adulthood; in others, it does not begin until adulthood. Hallmarks of atopic dermatitis include dry, itchy skin and red rashes that come and go. The rashes can occur on any part of the body, although the pattern tends to be different at different ages. In affected infants, the rashes commonly occur on the face, scalp, hands, and feet. In children, the rashes are usually found in the bend of the elbows and knees and on the front of the neck. In adolescents and adults, the rashes typically occur on the wrists, ankles, and eyelids in addition to the bend of the elbows and knees. Scratching the itchy skin can lead to oozing and crusting of the rashes and thickening and hardening (lichenification) of the skin. The itchiness can be so severe as to disturb sleep and impair a person's quality of life.
  • 1.1K
  • 31 Dec 2020
Topic Review
Otopalatodigital Syndrome Type 1
Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development.
  • 1.1K
  • 24 Dec 2020
Topic Review
Björnstad Syndrome
Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Björnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.
  • 1.1K
  • 24 Dec 2020
Topic Review
LncRNA in Colorectal Cancer
Colorectal cancer is the third most common cause of cancer mortality worldwide, and one of the current hot topics in this field is the identification of markers for identifying patients with high probability of relapse, which may benefit from adjuvant chemotherapy in stage II. In this sense long noncoding RNAs are a promising source of novel cancer biomarkers and therapeutic targets, although to robustly assess their gene expression levels is challenging due to their low expression. We present a protocol (hereafter referred as CoLong design) which couples target enrichment and RNA-seq that allows transcriptomics studies of lncRNAs in formalin-fixed paraffin embedded (FFPE) tissue samples. We show that our new approach alllows to efficiently detect differences in gene expression and somatic mutations in lncRNAs, and we propose several lncRNAs as potential candidates for colorectal cancer. This new approach could represent a promising avenue that would reduce costs and enable more efficient translational research.
  • 1.1K
  • 27 Oct 2020
Topic Review
THAP1 Gene
THAP domain containing 1: The THAP1 gene provides instructions for making a protein that is a transcription factor, which means that it attaches (binds) to specific regions of DNA and regulates the activity of other genes.
  • 1.1K
  • 25 Dec 2020
Topic Review
Genetic Improvement of Drought Tolerance in Conifers
The constant rise in the global temperature and unpredictable shifts in precipitation patterns are two of the main effects of climate change. Conifers originated more than 300 million years ago and currently dominate many temperate and boreal forests.
  • 1.1K
  • 09 Dec 2022
Topic Review
Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body.
  • 1.1K
  • 25 Dec 2020
Topic Review
MYH9-Related Disorder
MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).
  • 1.1K
  • 23 Dec 2020
Topic Review
Allan-Herndon-Dudley Syndrome
Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people.
  • 1.1K
  • 24 Dec 2020
Topic Review
AKT1 Gene
AKT serine/threonine kinase 1
  • 1.1K
  • 24 Dec 2020
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